Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Clin Genet. 2011 Jun 3;

Authors: Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N

We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brainstem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X-linked disorder, we performed next-generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T>C (p.V31A) in L1CAM, were potentially pathogenic, but this remained inconclusive. The other four could be excluded. Because the patients did not show adducted thumbs or hydrocephalus, the L1CAM change in this family can be interpreted as different scenarios. Personal genome analysis using NGS is certainly powerful, but interpretation of the data can be a substantial challenge requiring a lot of tasks.

PMID: 21644943 [PubMed - as supplied by publisher]

Topics
Related posts
Personalized medicine from Sciencedaily
- Slew of rare DNA changes following population explosion may hold clues to common diseases
  Scientists have taken a first step toward understanding how rare genetic differences among people contribute to leading chronic illnesses. One-letter DNA code changes occur frequently in human genomes, but each variant is usually found in only a few individuals. This phenomenon is consistent with the population explosion of the past 5,000 years. Studying the […]
- Ultrasensitive biosensor promising for medical diagnostics
  Researchers have created an ultrasensitive biosensor that could open up new opportunities for early detection of cancer and "personalized medicine" tailored to the specific biochemistry of individual patients. […]
- Genetic test identifies eye cancer tumors likely to spread
  Researchers have developed a genetic test that can accurately predict whether the most common form of eye cancer will spread to other parts of the body, particularly the liver. The test successfully classified tumors more than 97 percent of the time. […]
- Drug kills cancer cells by restoring faulty tumor suppressor
  New research uses a novel, computer based strategy to identify potential anti-cancer drugs, including one that targets the third most common p53 mutation in human cancer, p53-R175H. The number of new cancer patients harboring this mutation in the United States who would potentially benefit from this drug is estimated to be 30,000 annually. […]
- Molecular subtypes and genetic alterations may determine response to lung cancer therapy
  Scientists have just shown that lung cancer molecular subtypes correlate with distinct genetic alterations and with patient response to therapy. These findings in pre-clinical models and patient tumor samples build on their previous report of three molecular subtypes of non-small cell lung cancer and refines their molecular analysis of tumors. […]
- Genetically modified T cell therapy appears to be safe, lasting in decade-long study of HIV patients
  HIV patients treated with genetically modified T cells remain healthy up to 11 years after initial therapy, researchers report. The results provide a framework for the use of this type of gene therapy as a powerful weapon in the treatment of HIV, cancer, and a wide variety of other diseases. […]
- Geneticist develops tool to identify genes important in disease, tailoring individual treatment
  Medical researchers have devised a technique for testing the consequence of variant human gene alleles (alternative sequences of a single gene) by moving them into yeast cells. Once swapped into yeast, colony growth can be compared to reveal functional differences. […]
- Two distinguishable gene groups identified: One 'normal' and the other problematic
  Researchers have identified two distinguishable groups of genes: those that produce very abundant biochemical products in the cell and function properly in the majority of biological processes, and a flexible subset that might have abnormal function in a disease. […]
- New breast cancer genes identified: Basis of next-generation treatments?
  Scientists have identified new breast cancer genes that could change the way the disease is diagnosed and form the basis of next-generation treatments. […]
- Scientists identify FLT3 gene as a valid therapeutic target in acute myeloid leukemia
  Through a groundbreaking new gene sequencing technology, researchers have demonstrated that the gene FLT3 is a valid therapeutic target in Acute Myeloid Leukemia, AML, one of the most common types of leukemia. The discovery may help lead to the development of new drugs to treat AML. […]

Personal Genome

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Topics

Related posts

Personalized medicine from Sciencedaily